Atxn3
Gene Detail

Symbol Name ID

Atxn3 ataxin 3 MGI:1099442

Synonyms

2210008M02Rik, ataxin-3, Atx3, Mjd, MJD1, Sca3

Feature Type

protein coding gene

Genetic Map

Chromosome 12

51.32 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr12:101918901-101958246 bp, - strand From VEGA annotation of GRCm38   39346 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:3658  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Atxn3

Human homologs

Human Homolog		ATXN3, ataxin 3
NCBI Gene ID		4287
neXtProt AC		NX_P54252
Human Synonyms		AT3, ATX3, JOS, MJD, MJD1, SCA3
Human Chr (Location)		14q21; chr14:92524896-92572965 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ATXN3

Alleles and phenotypes

All alleles(38) : Targeted(4) Gene trapped(34)
 

Decreased exploratory behavior is reported for mice homozygous for a disruption of this marker.

 

Gene Ontology (GO) classifications

All GO classifications: (31 annotations)

Process	actin cytoskeleton organization, cellular response to heat, ...
Component	cytoplasm, mitochondrial matrix, ...
Function	cysteine-type peptidase activity, histone deacetylase activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (91)    Tissues (77)    Images (10)
Theiler Stages: 15, 17, 19, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	77
RNA in situ	1
Western blot	13

cDNA source data(10)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(10) cDNA(10)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000030696 (Evidence)
Ensembl Gene Model	ENSMUSG00000021189 (Evidence)
Entrez Gene	110616 (Evidence)
DFCI	TC1583694, TC1637845, TC1642487
DoTS	DT.101374029, DT.60104555
NIA Mouse Gene Index	U034277
EC	3.4.19.12
Consensus CDS Project	CCDS26115.1, CCDS49144.1
International Mouse Knockout Project Status	Atxn3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000030696	VEGA Gene Model | MGI Sequence Detail	39346	C57BL/6J
transcript	OTTMUST00000075997	VEGA | MGI Sequence Detail	5363	Not Applicable
polypeptide	OTTMUSP00000039935	VEGA | MGI Sequence Detail	355	Not Applicable

All sequences(53) RefSeq(4) UniProt(7)

Polymorphisms

SNPs(232 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR006155	Machado-Joseph disease protein MJD
InterPro	IPR003903	Ubiquitin interacting motif
Protein Ontology	PR:000004507	ataxin-3

References

(Earliest) J:43214 Kawaguchi Y, et al., CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet. 1994 Nov;8(3):221-8
(Latest) J:191124 Hubener J, et al., Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3). Hum Mol Genet. 2013 Feb 1;22(3):508-18
All references(63)

Other accession IDs

MGI:1923952, MGI:2144838, MGI:2144872